Canonical Allele Identifier: CA341748723

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220112C>A (hg19) ; chr1:g.114677491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677491C>A , CM000663.2:g.114677491C>A	GRCh38
NC_000001.10:g.115220112C>A , CM000663.1:g.115220112C>A	GRCh37
NC_000001.9:g.115021635C>A	NCBI36
NG_008012.1:g.23065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1236G>T	ENSP00000358551.4:p.Glu412Asp
ENST00000520113.7:c.1248G>T MANE Select	ENSP00000430075.3:p.Glu416Asp
ENST00000637080.1:c.1031G>T	ENSP00000489753.1:n.1031G>T
ENST00000639077.1:n.913G>T
ENST00000369538.3:c.1335G>T	ENSP00000358551.3:p.Glu445Asp
ENST00000520113.6:c.1347G>T	ENSP00000430075.2:p.Glu449Asp
NM_000036.2:c.1347G>T	NP_000027.2:p.Glu449Asp
NM_001172626.1:c.1335G>T	NP_001166097.1:p.Glu445Asp
NM_000036.3:c.1248G>T MANE Select	NP_000027.3:p.Glu416Asp
NM_001172626.2:c.1236G>T	NP_001166097.2:p.Glu412Asp